Influence of the d3GH receptor polymorphism on the metabolic and biochemical phenotype of GH-deficient adults at baseline and during short- and long-term recombinant human GH replacement therapy

European Journal of Endocrinology

Volumn 163, Issue 3, 2010, Pages 361-368

  Giavoli, Claudia ^a,b   Ferrante, Emanuele ^a,b   Profka, Eriselda ^a,b   Olgiati, Luca ^a,b   Bergamaschi, Silvia ^a,b   Ronchi, Cristina L ^a,b   Verrua, Elisa ^a,b   Filopanti, Marcello ^a,b   Passeri, Elena ^a   Montefusco, Laura ^a,c   Lania, Andrea G ^a,b   Corbetta, Sabrina ^a   Arosio, Maura ^a,c   Ambrosi, Bruno ^a   Spada, Anna ^a,b   Beck Peccoz, Paolo ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c IRCCS MULTIMEDICA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; GROWTH HORMONE RECEPTOR; HEMOGLOBIN A1C; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C; TRIACYLGLYCEROL;

ADULT; ALLELE; ARTICLE; BODY COMPOSITION; BODY FAT; BODY MASS; DNA POLYMORPHISM; EXON; FEMALE; GENETIC VARIABILITY; GENOTYPE; GLUCOSE BLOOD LEVEL; GLUCOSE HOMEOSTASIS; GLUCOSE METABOLISM; GROWTH HORMONE DEFICIENCY; HEMOGLOBIN BLOOD LEVEL; HORMONE SUBSTITUTION; HUMAN; INSULIN BLOOD LEVEL; INSULIN SENSITIVITY; MAJOR CLINICAL STUDY; MALE; OPEN STUDY; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; TRIACYLGLYCEROL BLOOD LEVEL;

ADULT; AGE FACTORS; DRUG ADMINISTRATION SCHEDULE; DWARFISM, PITUITARY; FEMALE; GENE DELETION; HUMAN GROWTH HORMONE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; PROSPECTIVE STUDIES; RECEPTORS, SOMATOTROPIN; TIME FACTORS;

EID: 77956274897     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0317     Document Type: Article

References (30)

1. Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M & Amselem S. Species-specific alternative splicing mimicry at the growth hormone receptor locus revealed by the lineage of retro-elements during primate evolution. Journal of Biological Chemistry 2000 275 18664-18669. (doi:10.1074/jbc. M001615200)
2. Dos Santos SC, Essioux L, Teinturier C, Tauber M, Goffin V & Bougneres P. A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nature Genetics 2004 36 720-724. (doi:10.1038/ng1379) (Pubitemid 38886633)
3. Ko JM, Park JY & Yoo HW. Common exon 3 polymorphism of the GH receptor (GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS). Clinical Endocrinology 2009 70 82-87. (doi:10.1111/j.1365-2265.2008.03418.x)
4. Binder G, Baur F, Schweizer R & Ranke MB. The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-forgestational-age children. Journal of Clinical Endocrinology and Metabolism 2006 91 659-664. (doi:10.1210/jc.2005-1581) (Pubitemid 43236940)
5. Blum WF, Machinis K, Shavrikova EP, Keller A, Sbobbe H, Pfaeffle RW & Amselem S. The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor. Journal of Clinical Endocrinology and Metabolism 2006 91 4171-4174. (doi:10.1210/jc.2006-0063) (Pubitemid 44536901)
6. Pilotta A, Mella P, Filisetti M, Felappi B, Prandi E, Parrinello G, Notarangelo LD & Buzi F. Common polymorphism of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children. Journal of Clinical Endocrinology and Metabolism 2006 91 1178-1180. (doi:10.1210/jc.2005-1308)
7. Carrascosa A, Audí L, Esteban C, Fernández-Cancio M, Andaluz P, Gussinyé M, Clemente M, Yeste D & Albisu MA. Growth hormone (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH therapy in short small-for-gestational-age children. Journal of Clinical Endocrinology and Metabolism 2008 93 147-153. (doi:10.1210/jc.2007-1182)
8. Wassenaar MJE, Dekkers OM, Pereira AM, Wit JM, Smit JW, Biermasz NR & Romijn JA. Impact of the exon 3-deleted growth hormone (GH) receptor polymorphism on baseline height and on the growth response to recombinant human GH therapy in GH-deficient (GHD) and non-GHD children with short stature: a systematic review and meta-analysis. Journal of Clinical Endocrinology and Metabolism 2009 94 3721-3730. (doi:10.1210/jc.2009-0425)
9. van der Klaauw AA, van der Straaten T, Baak-Pablo R, Biermasz NR, Guchelar HJ, Pereira AM, Smit JWA & Romijn JA. Influence of the d3-growth hormone (GH) receptor isoform on short-term amd long-term treatment response to GH replacement in GH-deficient adults. Journal of Clinical Endocrinology and Metabolism 2008 93 2828-2834. (doi:10.1210/jc.2007-2728)
10. Barbosa EJL, Palming J, Glad CAM, Filipsson H, Koranyi J, Bengtsson BA, Carlsson LNMS, Boguszewski CL & Johannsson G. Influence of the exon 3-deleted/full-length growth hormone (GH) receptor polymorphism on the response to GH replacement therapy in adults with severe GH deficiency. Journal of Clinical Endocrinology and Metabolism 2009 94 639-644. (doi:10.1210/jc.2008- 0323)
11. Adetunji OR, MacFarlane IA, Javadpour M, Alfirevic A, Pirmohamed M & Blair JC. The d3/fl-GH receptor gene polymorphism does not influence quality of life and body composition in GH-deficient adults receiving GH replacement therapy. European Journal of Endocrinology 2009 161 541-546. (doi:10.1530/EJE-09-0405)
12. De Boer H, Block GJ & van der Veen VA. Clinical aspects of growth hormone deficiency in adults. Endocrine Reviews 1995 16 63-86. (doi:10.1210/er.16.1.63)
13. Salomon F, Cuneo RC, Hesp R & Sonksen PH. The effects of treatment with recombinant human growth hormone on body composition and metabolism in adult with growth hormone deficiency. New England Journal of Medicine 1989 321 1797-1803. (Pubitemid 20015573)
14. Drake WM, Coyte D, Camacho-Hubner C, Jivanji NM, Kaltsas O, Wood DF, Trainer PJ, Grossman AB, Besser GM & Monson JP. Optimizing growth hormone replacement therapy by dose titration in hypopituitary adults. Journal of Clinical Endocrinology and Metabolism 1998 83 3913-3919. (doi:10.1210/jc.83.11. 3913) (Pubitemid 28513572)
15. Johannsson G, Bjarnason R, Bramnert M, Carlsson LM, Degerbled M, Manhem P, Rosen T, Thorén M & Bengtsson BA. The individual responsiveness to growth hormone (GH) treatment in GH-deficient adults is dependent on the level of GH-binding protein body mass index, age and gender. Journal of Clinical Endocrinology and Metabolism 1996 81 1575-1581. (doi:10.1210/jc.81.4.1575) (Pubitemid 126423256)
16. Rosenfeld RG, Wilson DM, Dollar LA, Bennet A & Hinz RL. Both human pituitary growth hormone and recombinant DNA-derived human growth hormone cause insulin resistance at a postreceptor site. Journal of Clinical Endocrinology and Metabolism 1982 54 1033-1038. (doi:10.1210/jcem-54-5-1033)
17. Sandhu MS, Heald AH, Gibson JM, Cruickshank JK, Dunger DB & Wareham NJ. Circulating concentrations of insulin-like growth factor-I and development of glucose intolerance: a prospective observatonal study. Lancet 2002 359 1740-1745. (doi:10.1016/S0140-6736(02)08655-5)
18. Giavoli C, Porretti S, Ronchi CL, Cappiello V, Ferrante E, Orsi E, Arosio M & Beck-Peccoz P. Long-term monitoring of insulin sensitivity in growth hormone-deficient adults on substitutive recombinant human growth hormone therapy. Metabolism 2004 53 740-743. (doi:10.1016/j.metabol.2003.11.025)
19. Ghigo E, Aimaretti G, Giannotti L, Bellone J, Arvat E & Camanni F. New approach to the diagnosis of growth hormone deficiency in adults. European Journal of Endocrinology 1996 134 352-356. (doi:10.1530/eje.0.1340352) (Pubitemid 26108154)
20. Corneli G, Di Somma C, Baldelli R, Rovere S, Gasco V, Croce CG, Grottoli S, Maccario M, Colao A, Lombardi G, Ghigo E, Camanni F & Aimaretti G. The cut-off limits of the GH response to GH-releasing hormone-arginine test related to body mass index. European Journal of Endocrinology 2005 153 257-264. (doi:10.1530/eje.1.01967)
21. Porretti S, Giavoli C, Ronchi CL, Lombardi G, Zaccaria M, Valle D, Arosio M & Beck-Peccoz P. Recombinant human GH replacement therapy and thyroid function in a large group of adult GH-deficient patients: when does L-T(4) therapy become mandatory? Journal of Clinical Endocrinology and Metabolism 2002 87 2042-2045. (doi:10.1210/jc.87.5.2042)
22. Giavoli C, Libè R, Corbetta S, Ferrante E, Lania A, Arosio M, SpadaA & Beck-Peccoz P. Effect of recombinant human growth hormone (GH) replacement on the hypothalamic-pituitary-adrenal axis in adult GH-deficient patients. Journal of Clinical Endocrinology and Metabolism 2004 89 5397-5401. (doi:10.1210/jc.2004-1114) (Pubitemid 39518415)
23. Matthews DR, Hosker JP, Rudensky AS, Naylor BA, Tracher DF & Turner RC. Homeostasis model assessment: insulin resitance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985 28 412-419. (doi:10.1007/BF00280883)
24. Katz A, Nambi SS, Mather K, Baron AD, Follmann DA, Sullivan G & Quon MJ. Quantitative insulin sensitive check index: a simple, accurate method for assessing insulin sensitivity in humans. Journal of Clinical Endocrinology and Metabolism 2000 85 2402-2410. (doi:10.1210/jc.85.7.2402) (Pubitemid 32269192)
25. Segal KR, Van Loan M, Fitzgerald PI, Hodgdon JA & Van Itallie TB. Lean body mass estimation by bioelectrical impedance analysis: a four-site cross validation study. American Journal of Clinical Nutrition 1988 47 7-14. (Pubitemid 18091531)
26. Pichard C, Kyle UG, Bracco D, Slosman DO, Morabia A & Schutz Y. Reference values of fat-free and fat masses by bioelectrical impedance analysis in 3393 healthy subjects. Nutrition 2000 16 245-254. (doi:10.1016/S0899-9007(00) 00256-2) (Pubitemid 30176049)
27. Bengtson BA & Johansson JO. Effect of seven years of GH-replacement therapy on insulin sensitivity in GH-deficient adults. Journal of Clinical Endocrinology and Metabolism 2002 87 2121-2127. (doi:10.1210/jc.87.5.2121)
28. Jørgensen JO, Krag M, Jessen N, Nørrelund H, Vestergaard ET, Møller N & Christiansen JS. Growth hormone and glucose homeostasis. Hormone Research 2004 62 (Supplement 3) 51-55. (doi:10.1159/ 000080499)
29. Montefusco L, Filopanti M, Ronchi CL, Olgiati L, La-Porta C, Losa M, Epaminonda P, Coletti F, Beck-Peccoz P, Spada A, Lania AG & Arosio M. d3-growth hormone receptor polymorphism in acromegaly: effects on metabolic phenotype. Clinical Endocrinology 2010 72 661-667. (doi:10.1111/j.1365-2265. 2009.03703.x)
30. Strawbridge RJ, Karvestedt L, Li C, Efendic S, Ostenson CG, Gu HF & Brismar K. GHR exon 3 polymorphism: association with type 2 diabetes mellitus and metabolic disorder. Growth Hormone & IGF Research 2007 17 392-398. (doi:10.1016/j.ghir.2007.04.005) (Pubitemid 47324304)